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Overview
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Background
Myotonic dystrophy protein kinase (DMPK) is a ulti-domain protein kinase found in muscle that is activated in response to G protein second messengers and proteolysis. DMPK is implicated in myotonic muscular dystrophy (DM), an autosomal dominant-inherited disorder that predominately affects skeletal and cardiac muscle and causes defects in cardiac conduction. DM arises through expansion of CTG repeats in the 3’-UTR of the DMPK gene. Mutant DMPK transcripts with an extended region of CUG repeats are retained in the nucleus. These transcripts also influence the expression of the DM locus-associated homeodomain protein (DMAHP)/SIX5, to mediate in part the DM phenotype. Other substrates for DMPK include myogenin, Ltype calcium channels, and Phospholemman (PLM).
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